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Gene: Brd2 MGI:99495

Gene Summary

Name:

bromodomain containing 2

Synonyms:

Rnf3, Frg-1, Ring3, Fsrg1, D17H6S113E

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased CD8-positive, alpha-beta T cell number	Brd2^{em1(IMPC)Wtsi}	HET	Early adult	0.00
increased mean corpuscular hemoglobin	Brd2^{em1(IMPC)Wtsi}	HET	Early adult	1.86×10^-06
preweaning lethality, complete penetrance	Brd2^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal auditory brainstem response	Brd2^{em1(IMPC)Wtsi}	HET	Early adult	1.15×10^-08
abnormal vertebral arch morphology	Brd2^{em1(IMPC)Wtsi}	HET	Early adult	4.06×10^-06
increased CD4-positive, alpha-beta T cell number	Brd2^{em1(IMPC)Wtsi}	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Brd2^{em1(IMPC)Wtsi}
HET, Female, WTSI

Brd2^{em1(IMPC)Wtsi}
HET, Male, WTSI

View all 90 images

Brd2^{em1(IMPC)Wtsi}
abnormal coat/hair pigmentation, WT, Female, WTSI

Brd2^{em1(IMPC)Wtsi}
abnormal digit morphology, HET, Male, WTSI

Brd2^{em1(IMPC)Wtsi}
HOM, Female, WTSI

Brd2^{em1(IMPC)Wtsi}
abnormal cornea morphology, HET, Female, WTSI

Brd2^{em1(IMPC)Wtsi}
abnormal cornea morphology, HET, Male, WTSI

Human diseases caused by Brd2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Brd2 (0 diseases)
Human diseases predicted to be associated with Brd2 (893 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Brd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypertriglyceridemia...	ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan...	ORPHA:280356
Glycogen Storage Disease Vi	Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc...	OMIM:232700
Lipodystrophy, Familial Partial, Type 1	Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t...	OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L...	OMIM:612526
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t...	ORPHA:71526
Lipase Deficiency, Combined	Lipodystrophy, Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus	OMIM:246650
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal...	ORPHA:324575
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Cirrhosis, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ...	OMIM:604367
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le...	ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste...	OMIM:615703
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Short neck, Scoliosis, Thrombocytopenia, Abnormal hemoglobin, Abnormal form of the verteb...	ORPHA:3319
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect...	ORPHA:79085
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Lipe-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ...	ORPHA:435660
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser...	OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free...	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f...	ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H...	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat...	OMIM:613877
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato...	OMIM:610717
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea...	OMIM:608709
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity, Hypercholesterolemia	OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas...	OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Cirrhosis, Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subcut...	ORPHA:363400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity	ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:312863
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Hyperglycemia, Reduced s...	OMIM:151660
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Increased C-peptide level, Adipose ti...	ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr...	OMIM:606762
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist...	ORPHA:181393
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Decreased circulating free T4 concentration, Inappropriately normal thyro...	OMIM:301033
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabete...	ORPHA:436182
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy...	ORPHA:276608
Mahvash Disease	Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Coronary Artery Disease, Autosomal Dominant 2	Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H...	OMIM:610947
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L...	ORPHA:293964
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic...	OMIM:615381
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara...	ORPHA:66628
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr...	OMIM:619855
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia...	OMIM:617885
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Scoliosis, Facial...	OMIM:601382
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara...	ORPHA:179494
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy...	OMIM:609968
Mody	Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis...	ORPHA:552
Hypertriglyceridemia 1	Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:144600
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Lipodystrophy...	ORPHA:2348
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hyperuricemia, Maternal diabetes, Pancreatitis, Insulin resistance, Hepatic steatosis,...	ORPHA:79083
Insulin Autoimmune Syndrome	Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H...	ORPHA:411593
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Precocious puberty, Small for ge...	OMIM:616222
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly	OMIM:619175
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega...	OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ...	ORPHA:263455
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Cirrhosis, Abnormal circulating lipid concentration, Insulin resistance, Hepati...	ORPHA:79086
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Perlman Syndrome	Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Tall stature, Hepatomegaly, Abnormal pancreas ...	ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me...	OMIM:608594
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol...	ORPHA:79644
Mandibuloacral Dysplasia	Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f...	ORPHA:2457
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,...	OMIM:619868
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy...	OMIM:147630
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Multiple Symmetric Lipomatosis	Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly	ORPHA:2398
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation...	ORPHA:79237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me...	OMIM:269700
Zollinger-Ellison Syndrome	Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno...	ORPHA:913
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P...	ORPHA:280365
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Insulinoma	Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr...	ORPHA:97279
Retinitis Pigmentosa	Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Atypical s...	ORPHA:791
Gcgr-Related Hyperglucagonemia	Increased glucagon level, Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract mor...	ORPHA:438274
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H...	OMIM:306000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Polycystic ovari...	ORPHA:3085
African Iron Overload	Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ...	ORPHA:139507
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, F...	ORPHA:35878
Primary Lipodystrophy	Cirrhosis, Type II diabetes mellitus, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipody...	ORPHA:90970
Hemochromatosis, Type 4	Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet...	OMIM:606069
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati...	OMIM:616828
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ...	OMIM:617872
Acquired Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy, Insulin resistance	ORPHA:79087
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed...	OMIM:616033
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad...	OMIM:619386
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ...	ORPHA:75234
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity	ORPHA:140941
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the l...	ORPHA:69663
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Truncal obesity	OMIM:240900
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Polyphagia, Tall stature	OMIM:618406
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline...	ORPHA:2298
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated hepatic transaminase, Elevate...	OMIM:613327
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab...	ORPHA:189439
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Glucose intolerance	ORPHA:369873
Donohue Syndrome	Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Severe failure to th...	OMIM:246200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Hyp...	OMIM:248370
Citrullinemia Type Ii	Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Hyperactivity, Hepatocellular carci...	ORPHA:247585
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr...	OMIM:619048
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ...	OMIM:613027
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Failure to thrive, Elevated circulating acylcarnitine concentration, Ketotic h...	ORPHA:26792
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase	OMIM:618400
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,...	OMIM:278000
Glycerol Kinase Deficiency	Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Hypoglycemia, Crypto...	OMIM:307030
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener...	OMIM:608612
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Analbuminemia	Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr...	OMIM:616000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Dysbetalipoproteinemia	Hypothyroidism, Hypertriglyceridemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, I...	ORPHA:412
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Elevated circulating creatine kinase concentration, Increased LDL chol...	OMIM:616516
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Hyperostosis Frontalis Interna	Diabetes mellitus, Increased circulating prolactin concentration, Obesity	OMIM:144800
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Overfriendliness	OMIM:618010
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr...	ORPHA:369
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic glycogen, Elevated hepa...	ORPHA:264580
Alstrom Syndrome	Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul...	OMIM:203800
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H...	OMIM:607616
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,...	ORPHA:71212
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, P...	OMIM:262400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic tra...	ORPHA:370
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Polyphagia, Obesity	OMIM:614962
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Bangstad Syndrome	Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici...	OMIM:609734
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Precocious puberty, Small for gestational age, Maturity-onset diabetes of t...	ORPHA:96184
Transient Neonatal Diabetes Mellitus	Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci...	ORPHA:99886
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Mpi-Cdg	Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,...	ORPHA:79319
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat...	OMIM:619013
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Ballooning hepatoc...	OMIM:603471
Laron Syndrome	Delayed puberty, Hypoglycemia, Truncal obesity, Hypercholesterolemia, Abnormality of the endocrin...	ORPHA:633
Seckel Syndrome 10	Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur...	OMIM:617253
Syndromic X-Linked Intellectual Disability 7	Obesity, Hypogonadism, Cryptorchidism	ORPHA:85274
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin...	ORPHA:101330
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:611926
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Cirrhosis, Microvesicular hepatic steatosis, Hyperthreoninemia, Hypermethioninemi...	OMIM:605814
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h...	OMIM:255120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall	ORPHA:3055
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholest...	ORPHA:209902
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc...	OMIM:600501
Familial Chylomicronemia Syndrome	Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, F...	ORPHA:444490
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen...	OMIM:603552
Mehmo Syndrome	Diabetes mellitus, Obesity, Agitation, Cryptorchidism	ORPHA:85282
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev...	OMIM:616648
Morgagni-Stewart-Morel Syndrome	Hypothyroidism, Hyperuricemia, Abnormality of the endocrine system, Diabetes mellitus, Abnormalit...	ORPHA:77296
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h...	ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615395
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Hepatocellular carcinoma...	ORPHA:79240
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin...	ORPHA:42
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Type II diabetes mellitus, Biliary tract abnormality, I...	ORPHA:3191
Prader-Willi syndrome (Type 1)	Hypogonadism, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Hypogonadism, Truncal obesity	DECIPHER:53
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce...	OMIM:262190
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ...	ORPHA:254516
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Hepatitis, Increased circulating ferritin concentration, He...	OMIM:300635
Fish-Eye Disease	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired ...	OMIM:261680
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Steatorrhea, Failure...	OMIM:602579
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph...	OMIM:614963
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot...	ORPHA:300536
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles...	OMIM:618620
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Bardet-Biedl Syndrome 11	Obesity, Hypogonadism	OMIM:615988
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi...	OMIM:300148
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Abdominal Obesity-Metabolic Syndrome 3	Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal obesity, Hypercholest...	OMIM:615812
Congenital Analbuminemia	Small for gestational age, Increased circulating antibody level, Increased alpha-globulin, Lipody...	ORPHA:86816
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im...	OMIM:212140
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase...	ORPHA:446
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Scoliosis...	OMIM:617519
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism	OMIM:309585
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Estrogen Resistance Syndrome	Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal...	ORPHA:785
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati...	OMIM:232400
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Scleros...	OMIM:619662
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase...	OMIM:300946
Cortisone Reductase Deficiency 2	Obesity, Insulin resistance, Premature pubarche	OMIM:614662
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Hepatosplenomegaly, Increased circulating ferritin concentr...	OMIM:613101
Bardet-Biedl Syndrome 5	Obesity, Hypogonadism	OMIM:615983
Bardet-Biedl Syndrome 10	Obesity, Hypogonadism	OMIM:615987
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:320401
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elbow flexion contracture, Achilles tendon contracture, Elevated circulatin...	ORPHA:98855
Laurence-Moon Syndrome	Type II diabetes mellitus, Obesity, Cryptorchidism, Congenital hepatic fibrosis	ORPHA:2377
Nephrotic Syndrome, Type 14	Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Hypertriglycer...	OMIM:617575
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypo...	OMIM:603233
Rabson-Mendenhall Syndrome	Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level...	ORPHA:769
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Chronic pancreatitis, V...	ORPHA:98908
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Impaired glucose tolerance, Small for gestational age, Reduced subcutaneo...	OMIM:606721
Proteasome-Associated Autoinflammatory Syndrome 3	Flexion contracture, Increased circulating antibody level, Elevated hepatic transaminase, Lipodys...	OMIM:617591
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Incr...	OMIM:182290
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase...	OMIM:264470
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I...	OMIM:274300
Carcinoma Of Esophagus	Obesity, Weight loss, Dysphagia	ORPHA:70482
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Xq27.3Q28 Duplication Syndrome	Hypogonadism, Decreased testicular size, Failure to thrive, Truncal obesity, Cryptorchidism	ORPHA:261483
Cog4-Cdg	Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolemia, Fatal liver f...	ORPHA:263501
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity, Hypogonadism	OMIM:615996
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre...	OMIM:615363
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr...	ORPHA:300373
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai...	OMIM:618805
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Panniculitis	OMIM:618398
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con...	OMIM:600649
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Hepatic steatosis,...	OMIM:301045
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elbow flexion contracture, Achilles tendon contracture, Elevated circulatin...	ORPHA:98863
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepatic failure, Decr...	ORPHA:228305
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function	OMIM:601466
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elbow flexion contracture, Achilles tendon contracture, Elevated circulatin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elbow flexion contracture, Achilles tendon contracture, Elevated circulatin...	ORPHA:98853
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellit...	OMIM:615830
Central Precocious Puberty	Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin...	ORPHA:759
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Hyperbilirubinemia, Hepatocellular carcinoma, Elevated hepatic transaminase, Hep...	ORPHA:158057
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Increased circulating interleukin 6 ...	ORPHA:158061
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function	OMIM:617093
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl...	OMIM:619418
Chylomicron Retention Disease	Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t...	ORPHA:71
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Overweight, Hypercholesterolemia	ORPHA:401923
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Hypothyroidism, Hypocalcemic tetany, Elevated circulating thyroid-stimulating ...	OMIM:612462
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles...	ORPHA:1414
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
19P13.12 Microdeletion Syndrome	Hypothyroidism, Hyperactivity, Precocious puberty, Hepatic steatosis, Hyperlipidemia, Cryptorchid...	ORPHA:254346
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Multiple joint contractures, Small for gestational age, Neoplasm of th...	ORPHA:2959
H Syndrome	Hernia, Hypogonadism, Decreased testicular size, Camptodactyly, Hepatosplenomegaly, Lipodystrophy...	ORPHA:168569
48,Xxyy Syndrome	Decreased testicular size, Type II diabetes mellitus, Inguinal hernia, Attention deficit hyperact...	ORPHA:10
Aromatase Deficiency	Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He...	ORPHA:91
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Nonketotic hypoglycemia...	OMIM:201475
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Blue Diaper Syndrome	Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat...	ORPHA:94086
Tangier Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulating apolipoprotein A-I c...	OMIM:205400
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad...	OMIM:610475
Narcolepsy Type 1	Obesity	ORPHA:2073
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hypothyroidism, Hepatic fibrosis, Achilles tendon contracture, Steatorrhea, Hepatic steatosis, Fa...	OMIM:616263
Immunodeficiency 47	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegal...	OMIM:300972
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Hypopituitarism, Hypercholesterolemia, Hyperglycemia, Alcoholism	ORPHA:90065
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,...	OMIM:267700
Apolipoprotein C-Ii Deficiency	Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Scoliosis, Abnormal cranial nerve morphology, Prolonge...	OMIM:601596
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen...	ORPHA:209919
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Hemochromatosis, Neonatal	Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatic failure, Hepatocellular nec...	OMIM:231100
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat...	OMIM:201450
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Hy...	OMIM:610628
Macrosomia Adiposa Congenita	Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma	OMIM:248100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy	OMIM:125250
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Hemochromatosis Type 4	Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi...	ORPHA:139491
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc...	ORPHA:508
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Obesity, Cryptorchidism	OMIM:301900
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Elevated...	OMIM:103580
Glycogen Storage Disease Ixb	Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g...	OMIM:261750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Obesity, Hypoalbuminemia	ORPHA:88643
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment	OMIM:601455
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:540
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Impaired glucose tolerance, Glucose intolerance, Cholestasis, ...	OMIM:615630
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Increased circulating in...	OMIM:256040
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami...	OMIM:614921
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Eunuchoid habitus, Abnormalit...	ORPHA:2234
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Rotor Syndrome	Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjugated hyperbili...	ORPHA:3111
Hernández-Aguirre Negrete Syndrome	Delayed puberty, Obesity	ORPHA:2139
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Hypothyroidism, Hyperuricemia, Thyroiditis, Hepatocellular carcinoma, Hepat...	ORPHA:79259
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Obesity, Incre...	ORPHA:98907
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity, Hypogonadism	OMIM:615981
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Obesity, Failure to thrive in infancy, Attention deficit hyperactivity disorder	OMIM:613670
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Failure to thrive,...	OMIM:615947
Bardet-Biedl Syndrome 16	Obesity, Hypogonadism	OMIM:615993
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Disproportionate tall stature, Hepatic steatosis, Inguin...	OMIM:236200
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circulating creatine kinase concen...	OMIM:212138
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Nonketotic hypoglyc...	ORPHA:99901
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Hyponatremia, Increased circulating ACTH level, Decreased circulating cortiso...	OMIM:614736
Bardet-Biedl Syndrome 4	Obesity, Hypogonadism, Cryptorchidism	OMIM:615982
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau...	ORPHA:567983
Bardet-Biedl Syndrome 22	Obesity, Polyphagia, Large for gestational age, Hypogonadism	OMIM:617119
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated h...	ORPHA:79303
Smith-Magenis Syndrome	Hypothyroidism, Hypertriglyceridemia, Precocious puberty, Delayed puberty, Attention deficit hype...	ORPHA:819
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Cholec...	ORPHA:90041
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Cryptorchidism, Congenital hypothyroidism, Obesity	OMIM:614613
Schaaf-Yang Syndrome	Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Cryptorchidism, Obesit...	OMIM:615547
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Knee flexion contracture, Increased total bilirubin, Elevated circulating alanine aminotransferas...	OMIM:608836
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Hyperalaninemia, Hyperprolinemia	OMIM:615918
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Obesity, Lipoma, Oral-pharyngeal dysphagia	ORPHA:480907
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Sacral dimple, Increased intervertebral space, Abnormality of the cervical spi...	ORPHA:508533
Congenital Disorder Of Glycosylation, Type Ia	Hypothyroidism, Hepatic fibrosis, Flexion contracture, Decreased circulating IgG level, Abnormal ...	OMIM:212065
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Pseudohypoparathyroidism	OMIM:612463
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Failure to thrive, Decreased liver function, Dysphagia	ORPHA:70472
Atypical Werner Syndrome	Hyperinsulinemia, Decreased body weight, Hypogonadism, Abnormal testis morphology, Glycosuria, Ty...	ORPHA:79474
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hy...	ORPHA:73272
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotrop...	ORPHA:298
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Werner Syndrome	Elevated circulating alanine aminotransferase concentration, Hypogonadism, Elevated circulating a...	OMIM:277700
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Agammaglobulinemia, Decreased ...	OMIM:300310
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Small for gestational age, Decreased testicular size, Increased circulating gonadot...	OMIM:300869
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concen...	OMIM:256810
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia...	ORPHA:567548
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ...	ORPHA:470
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste...	ORPHA:348
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:219080
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,...	ORPHA:26793
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Hepatic failure, Decrea...	ORPHA:275761
Dpm1-Cdg	Knee flexion contracture, Hepatic fibrosis, Camptodactyly, Elevated hepatic transaminase, Hepatos...	ORPHA:79322
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence...	OMIM:301082
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg...	OMIM:214900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Adrenocortical Carcinoma	Increased serum estradiol, Hyperaldosteronism, Weight loss, Increased circulating cortisol level,...	ORPHA:1501
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t...	OMIM:603553
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypothyroidism, Hyperuricemia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancr...	ORPHA:93111
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem...	OMIM:614300
Chung-Jansen Syndrome	Impulsivity, Obesity, Attention deficit hyperactivity disorder, Cryptorchidism	OMIM:617991
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Abnormal circulating lipid concentration, Hepatic failure, Decreased liver function, H...	ORPHA:77293
Ataxia-Oculomotor Apraxia 4	Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:616267
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co...	ORPHA:53693
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia	OMIM:600955
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste...	ORPHA:541423
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Biconcave vertebral bodies, Sensorineural hearing impairment, Abnormal auditory evoked potentials...	OMIM:619260
Wilson Disease	Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa...	ORPHA:905
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin...	OMIM:614582
Insulin-Like Growth Factor I, Resistance To	Decreased body weight, Reduced subcutaneous adipose tissue, Agitation, Lipodystrophy, Increased c...	OMIM:270450
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma, Obe...	OMIM:219090
Halothane Hepatitis	Hepatitis, Viral hepatitis, Jaundice, Obesity	OMIM:234350
Familial Multiple Lipomatosis	Increased adipose tissue, Insulin resistance, Overgrowth, Lipodystrophy, Hyperlipidemia	ORPHA:199276
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Abnormal intr...	ORPHA:363618
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H...	OMIM:277900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h...	OMIM:231530
Solitary Fibrous Tumor/Hemangiopericytoma	Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic...	ORPHA:2126
Multiple Endocrine Neoplasia, Type I	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	OMIM:131100
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ...	ORPHA:2089
Bardet-Biedl Syndrome 9	Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia	OMIM:615986
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepatic failure, Decr...	ORPHA:228308
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat...	OMIM:615558
Acrocraniofacial Dysostosis	Abnormal auditory evoked potentials, Abnormality of the vertebral column, Conductive hearing impa...	OMIM:201050
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Hypoglycemia, Acute hyperammonemia, Acute hepatic steatosis	OMIM:210200
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Cryptorchidism, Obesity, Increased circulating IgE level, ...	ORPHA:3409
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Pearson Syndrome	Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Hepatic steatosis, Hypopara...	ORPHA:699
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:444002
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98754
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Hypoplastic spleen, Increased circulating ferritin concentration, Hypoplasi...	OMIM:619313
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Increased body ...	ORPHA:890
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity, Hypogonadism, Abnormal testis morphology	ORPHA:2233
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Classical-Like Ehlers-Danlos Syndrome Type 2	Widened atrophic scar, Ventral hernia, Cellulitis, Inguinal hernia, Diabetes mellitus, Cryptorchi...	ORPHA:536532
Interstitial Lung And Liver Disease	Hypothyroidism, Hepatic fibrosis, Cirrhosis, Intraalveolar phospholipid accumulation, Elevated ci...	OMIM:615486
Bardet-Biedl Syndrome 7	Obesity, Hypogonadism	OMIM:615984
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Abnormality of the endocrine system, Elevated circulating parathyroid hormone ...	ORPHA:79445
Microtriplication 11Q24.1	Obesity, Hyperlipidemia	ORPHA:289522
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congen...	OMIM:614450
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity	ORPHA:3459
Prader-Willi Syndrome	Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre...	OMIM:176270
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Neoplasm of t...	ORPHA:457059
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity, Polyphagia	ORPHA:177910
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98793
Multiple Acyl-Coa Dehydrogenase Deficiency	Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent...	OMIM:231680
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperuricemia, Hyperlipidemia	ORPHA:364
Rett Syndrome	Increased serum leptin, Agitation, Failure to thrive, Cholecystitis, Hyperammonemia, Increased se...	ORPHA:778
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177904
Sheehan Syndrome	Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c...	ORPHA:91355
15Q24 Microdeletion Syndrome	Hernia, Decreased response to growth hormone stimulation test, Small for gestational age, Congeni...	ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Wrist flexion contracture, Macroorchidism, Flexion contracture, Male hypogonadism, Obesity, Restl...	OMIM:300055
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Obesity, Hypergonadotropic hypogonadism	OMIM:619737
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia,...	OMIM:619471
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177901
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct prolif...	OMIM:618329
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d...	OMIM:610489
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Abnormality of the vertebral column, Sensorineural hearing i...	OMIM:109120
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ...	OMIM:615438
Mandibuloacral Dysplasia Progeroid Syndrome	Flexion contracture, Glucose intolerance, Elevated hepatic transaminase, Generalized lipodystroph...	OMIM:619127
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Propionic Acidemia	Hypoglycemia, Hyperammonemia, Hepatomegaly	ORPHA:35
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De...	OMIM:613070
48,Xxxy Syndrome	Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Inguinal hernia, Attention de...	ORPHA:96263
Infantile Liver Failure Syndrome 3	Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon...	OMIM:618641
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:3464
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoparathyroidism,...	ORPHA:746
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Jaundice, Hyper...	OMIM:617156
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Bulimia, Dela...	ORPHA:398073
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Delayed puberty, Obesity, Hypogonadism	ORPHA:141333
Monosomy 13Q34	Hepatic steatosis, Obesity, Insulin resistance, Hypercalcemia	ORPHA:96168
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu...	ORPHA:230
Methanol Poisoning	Type II diabetes mellitus, Alcoholism, Type I diabetes mellitus, Hyperlipidemia	ORPHA:31825
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	ORPHA:64753
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly	ORPHA:156
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas...	ORPHA:398079
Aicardi-Goutieres Syndrome 9	Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Hepatosplenomegaly,...	OMIM:619487
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi...	OMIM:619755
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve...	OMIM:613986
Cimdag Syndrome	Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Hepatomegaly, Cholelithiasis	OMIM:619273
Autoimmune Hepatitis	Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ...	ORPHA:2137
Summitt Syndrome	Obesity	OMIM:272350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity, Umbilical hernia, Cryptorchidism	ORPHA:171839
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Enamel hypoplasia, Hip contracture, Inguinal hernia, Truncal obesity, Amelogenesis imperfecta, Ob...	OMIM:618363
13Q12.3 Microdeletion Syndrome	Hyperactivity, Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Cryptorchidism,...	ORPHA:412035
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Obesity	ORPHA:352530
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Obesity, Pseudohypoparathyroidism, Cryptorchidism, Abnormality of the endocrine system	ORPHA:464288
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Morm Syndrome	Hyperactivity, Truncal obesity	ORPHA:75858
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Flexion contracture of digit, Hypogonadism, Decreased testicular size, Reduced subcutaneous adipo...	ORPHA:3041
Diarrhea 10, Protein-Losing Enteropathy Type	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Decreased circula...	OMIM:618183
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Failure to thriv...	OMIM:609069
Septo-Optic Dysplasia Spectrum	Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Ab...	ORPHA:3157
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ...	ORPHA:3240
Rafiq Syndrome	Flexion contracture, Obesity, Truncal obesity	OMIM:614202
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Jaundice...	OMIM:617049
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s...	ORPHA:79444
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia	OMIM:613886
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia, Dysphagia, Primary hypothyroidism	OMIM:249310
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:881
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
Senior-Loken Syndrome 9	Hepatic fibrosis, Obesity, Cholestasis, Hypogonadism	OMIM:616629
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Elevated hepatic transaminase, Abnormal circulating creatine kinase concentrat...	ORPHA:369840
Abetalipoproteinemia	Hypothyroidism, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbiliru...	ORPHA:14
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment...	ORPHA:1215
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole...	ORPHA:650
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Attention deficit hyperactiv...	ORPHA:284180
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia	ORPHA:529799
Congenital Isolated Acth Deficiency	Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti...	ORPHA:199296
Liver Disease, Severe Congenital	Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E...	OMIM:619991
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor...	ORPHA:52368
Nephronophthisis 15	Obesity, Elevated hepatic transaminase	OMIM:614845
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Decreased liver function, Small for gestational age, Unconjugated hyperbilirubinemia, ...	OMIM:613658
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Diabetes ...	OMIM:616026
Glycogen Storage Disease Ib	Splenomegaly, Hyperuricemia, Hepatocellular carcinoma, Elevated hepatic transaminase, Delayed pub...	OMIM:232220
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency	ORPHA:977
Dilated Cardiomyopathy With Ataxia	Hypothyroidism, Microvesicular hepatic steatosis, Bilateral cryptorchidism, Elevated hepatic tran...	ORPHA:66634
Xp21 Deletion Syndrome	Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen...	ORPHA:261476
Glycogen Storage Disease Ia	Hyperuricemia, Hepatocellular carcinoma, Elevated hepatic transaminase, Delayed puberty, Hypoglyc...	OMIM:232200
Carpenter Syndrome	Polysplenia, Obesity, Umbilical hernia, Cryptorchidism	ORPHA:65759
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell...	ORPHA:331235
Clark-Baraitser Syndrome	Hyperactivity, Obesity	OMIM:617752
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Abnormal circulating lipid concentration, Insulin resistance, Inguinal hernia, Di...	OMIM:616541
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Hypogonadism, Decreased testicular size, Delayed puberty, Cryptorchidism, Abdomina...	OMIM:300354
Silver-Russell Syndrome	Precocious puberty, Decreased testicular size, Cachexia, Insulin resistance, Recurrent hypoglycem...	ORPHA:813
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity, Umbilical hernia	ORPHA:1035
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Jaundice,...	ORPHA:90790
Perrault Syndrome 4	Decreased serum estradiol, Disproportionate tall stature, Increased circulating gonadotropin leve...	OMIM:615300
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Short neck, Low-set, posteriorly rotated ears...	ORPHA:98791
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Weight loss, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transaminase, Acu...	ORPHA:20
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Achilles tendon contracture, Obesity, Elevated circulating creatine kinase conce...	OMIM:615418
Trisomy 5P	Obesity	ORPHA:1742
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia	ORPHA:445038
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel...	ORPHA:2235
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F, Low-set ears, Cupped ear, ...	OMIM:617101
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Obesity, Polyphagia	ORPHA:411515
Aceruloplasminemia	Hepatic fibrosis, Cirrhosis, Aceruloplasminemia, Decreased circulating ceruloplasmin concentratio...	ORPHA:48818
Cornelia De Lange Syndrome 5	Decreased testicular size, Cryptorchidism, Hypogonadism, Truncal obesity	OMIM:300882
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Weight loss, Hepatitis, Decreased circulating ACTH level, Decreased circulating co...	ORPHA:199299
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D...	OMIM:615710
Ornithine Transcarbamylase Deficiency	Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Spina bifida occulta, Kyphoscoliosis, Short neck, Scoliosis,...	OMIM:193700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Decreased circulating total IgM, Obesity, Hypercalcemia, Hypoparathyroidism, ...	ORPHA:369837
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Hyperactivity, Obesity	ORPHA:3077
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Obesity, Cryptorchidism, Abnormal dental enamel m...	ORPHA:439822
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Magel2-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei...	ORPHA:398069
Coenzyme Q10 Deficiency, Primary, 2	Bulimia, Obesity, Overweight	OMIM:614651
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
3-Methylglutaconic Aciduria, Type V	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De...	OMIM:610198
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypothyroidism, Cyanosis, Increased circulating prolactin concentration, Gonadotropin def...	ORPHA:293987
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis, Flexion contracture, Neonatal hypoglycemia	OMIM:616271
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Delayed puberty, Polyphagia, Hypercalcemia, Obesity, Abnormal dent...	ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase	OMIM:611126
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Anterior pituitary hypoplasia, Abdominal obesity, Decreased response to growth hormone stimulatio...	OMIM:618160
Alagille Syndrome 1	Cirrhosis, Hepatic failure, Hepatocellular carcinoma, Elevated hepatic transaminase, Reduced numb...	OMIM:118450
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o...	ORPHA:54595
Bloom Syndrome	Decreased circulating total IgM, Small for gestational age, Type II diabetes mellitus, Hepatic st...	OMIM:210900
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Puberty and gonadal disorders	ORPHA:464282
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia	OMIM:616521
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Hypogonadism, Cryptorchidism	ORPHA:363741
Cushing Disease	Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Impaired glucose tole...	ORPHA:96253
Acrodysostosis With Multiple Hormone Resistance	Hyperphosphatemia, Hyperactivity, Decreased response to growth hormone stimulation test, Hypogona...	ORPHA:280651
Steinert Myotonic Dystrophy	Hypercholesterolemia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Ab...	ORPHA:273
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s...	ORPHA:79443
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hypogonadism, Cryptorchidism	OMIM:601794
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia	ORPHA:90154
Bardet-Biedl Syndrome 8	Obesity, Hypogonadism	OMIM:615985
D-Bifunctional Protein Deficiency	Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent...	OMIM:261515
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X...	OMIM:210250
6Q16 Microdeletion Syndrome	Obesity, Polyphagia	ORPHA:171829
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Decreased circulating f...	ORPHA:226307
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Insulin resi...	OMIM:209900
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Fructose Intolerance, Hereditary	Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Hyperbilirubinemia, Elevated he...	OMIM:229600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Beckwith-Wiedemann Syndrome	Hypothyroidism, Adrenocortical cytomegaly, Adrenocortical carcinoma, Large for gestational age, N...	ORPHA:116
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Wagr Syndrome	Obesity, Cryptorchidism	ORPHA:893
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Cryptorchidism, Obesity, Umbilical hernia, Proportionate tall stature	ORPHA:404443
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:739
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Hyperactivity, Hypogonadism, Decreased testicular size, Cachexia, Inguin...	ORPHA:85293
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Large for gestational age, Hydrocele testis, Overgrowth, He...	OMIM:605309
Clark-Baraitser syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300602
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Microvesicular hepatic steatosis, Periportal fibrosis, Decreased liver function, Elevated hepatic...	OMIM:124000
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Hemophagocytic Syndrome Associated With An Infection	Abnormal cytokine signaling, Elevated hepatic transaminase, Increased circulating ferritin concen...	ORPHA:158048
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism	OMIM:615633
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Methylmalonic acidemia, Elevated hepatic transaminase, Increased intramyocel...	ORPHA:17
Bardet-Biedl Syndrome 21	Obesity, Elevated hepatic transaminase, Overweight	OMIM:617406
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	OMIM:277460
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Atkin-Flaitz Syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300431
Distal Monosomy 12Q	Biliary atresia, Hyperactivity, Elbow flexion contracture, Pituitary adenoma, Maturity-onset diab...	ORPHA:96149
Immunodeficiency 87 And Autoimmunity	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation...	OMIM:619573
Oculocerebrorenal Syndrome Of Lowe	Hypercholesterolemia, Diabetes insipidus, Hyperaldosteronism, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:534
Joubert Syndrome 37	Decreased testicular size, Obesity, Hepatomegaly, Cryptorchidism	OMIM:619185
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Pancreatitis, Hereditary	Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea...	OMIM:167800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Addison Disease	Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in...	ORPHA:85138
Glucocorticoid Resistance, Generalized	Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A...	OMIM:615962
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:614924
Alström Syndrome	Elevated hepatic transaminase, Dorsocervical fat pad, Hepatic steatosis, Hepatosplenomegaly, Decr...	ORPHA:64
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615595
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F...	ORPHA:231222
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepatic failure, Decr...	ORPHA:157
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Obesity, Increased serum testosterone level	ORPHA:247768
Down Syndrome	Hypothyroidism, Obesity, Umbilical hernia, Type II diabetes mellitus	ORPHA:870
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Bardet-Biedl Syndrome	Hepatic fibrosis, Hypogonadism, Hypoplasia of the ovary, Cryptorchidism, Obesity	ORPHA:110
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Increased serum estradiol, Increased circulating prolactin concentration...	ORPHA:3455
Carpenter Syndrome 1	Precocious puberty, Joint contracture of the hand, Polysplenia, Camptodactyly, Cryptorchidism, Om...	OMIM:201000
Distal 16P11.2 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder, Hyperuricemia	ORPHA:261222
Borjeson-Forssman-Lehmann Syndrome	Hypogonadism, Decreased testicular size, Camptodactyly of toe, Truncal obesity, Cryptorchidism	ORPHA:127
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do...	ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Baralle-Macken Syndrome	Obesity	OMIM:619255
Familial Renal Glucosuria	Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Truncal obesity	ORPHA:2928
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Hypokalemia, Portal fibrosis, Fa...	OMIM:619377
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618838
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Hepatomegaly, Obesity, Chole...	OMIM:301066
Radio-Tartaglia Syndrome	Precocious puberty, Impulsivity, Attention deficit hyperactivity disorder, Dysphagia, Obesity	OMIM:619312
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxi...	ORPHA:79102
Polycystic Ovary Syndrome 1	Obesity, Enlarged polycystic ovaries	OMIM:184700
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Flexion contracture, Hepatomegaly, Increased circulating IgM level, Macrovesicular ...	OMIM:617303
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma	OMIM:144010
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly...	ORPHA:565612
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Truncal obesity	OMIM:613192
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Polysplenia, Obesity	OMIM:610543
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Glycosuria, Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver function	ORPHA:436271
White-Sutton Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Hypoglycemic seizures, Failure to thrive, Overfri...	OMIM:616364
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D...	ORPHA:206443
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Disproportionate tall stature, Attention deficit hyperactivity disorder, Cryptorch...	OMIM:301039
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, Conductive hearing impairment, Sensorineural heari...	ORPHA:443811
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Decreased LDL choles...	ORPHA:404454
Keppen-Lubinsky Syndrome	Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o...	OMIM:614098
Cockayne Syndrome Type 1	Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud...	ORPHA:90321
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Increased serum testosterone level, Hypoplasia of the thymus, Small for gest...	OMIM:264090
2Q37 Microdeletion Syndrome	Supernumerary nipple, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, ...	ORPHA:1001
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder	OMIM:301013
Carney Complex	Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Dorsocervical fat pad, Fo...	ORPHA:1359
Peripartum Cardiomyopathy	Diabetes mellitus, Obesity, Abnormality of thyroid physiology, Increased circulating interferon-g...	ORPHA:563
Ring Chromosome Y Syndrome	Male hypogonadism, Unilateral cryptorchidism, Cryptorchidism, Streak ovary, Obesity	ORPHA:261529
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly	OMIM:275630
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev...	OMIM:619525
Mogs-Cdg	Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen...	ORPHA:79330
Nephrotic Syndrome, Type 1	Hypothyroidism, Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Hyperactivity, Obesity, Hepatomegaly	ORPHA:163681
Chédiak-Higashi Syndrome	Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating ferritin conce...	ORPHA:167
Megalencephaly	Macroorchidism, Truncal obesity	ORPHA:2477
Combined Oxidative Phosphorylation Deficiency 11	Hepatic steatosis, Decreased liver function, Hepatomegaly	OMIM:614922
Igg4-Related Thyroid Disease	Hypothyroidism, Increased circulating IgG4 level, Retroperitoneal fibrosis, Nodular goiter, Thyro...	ORPHA:64744
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
X-Linked Lymphoproliferative Disease	Hepatic failure, Decreased circulating total IgM, Fulminant hepatitis, Decreased circulating anti...	ORPHA:2442
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Ovoid vertebral bodies...	OMIM:260400
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618430
Digeorge Syndrome	Hypothyroidism, Splenomegaly, Femoral hernia, Hypoplasia of the thymus, Hypocalcemia, Hydrocele t...	OMIM:188400
8P23.1 Microdeletion Syndrome	Weight loss, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Cryptorch...	ORPHA:251071
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Hypercholesterolemia, Elevated maternal serum alpha-f...	OMIM:309000
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity, Abnormal dental enamel morphology	ORPHA:2180
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Charcot-Marie-Tooth Disease Type 1F	Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De...	ORPHA:101085
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Increased body mass index, Cryptorchidism, Truncal obesity	OMIM:300957
Meningioma	Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre...	ORPHA:2495
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, Microtia, Kyphosis, Hypochr...	OMIM:301040
Acute Adrenal Insufficiency	Hyperuricemia, Decreased circulating aldosterone level, Weight loss, Increased circulating ACTH l...	ORPHA:95409
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Biliary, Renal, Neurologic, And Skeletal Syndrome	Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Conjugated hyperbilirubinemi...	OMIM:619534
Luscan-Lumish Syndrome	Overgrowth, Polycystic ovaries, Obesity, Polyphagia	OMIM:616831
Griscelli Syndrome Type 2	Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly	ORPHA:79477
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Obesity	OMIM:600430
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Lipoatrophy, Flexion contracture, Failure to thrive	OMIM:614008
Visceral Steatosis, Congenital	Hepatic steatosis, Jaundice, Hypocalcemia, Hypoglycemia	OMIM:228100
Kleefstra Syndrome Due To 9Q34 Microdeletion	Abnormal testis morphology, Inguinal hernia, Failure to thrive, Cryptorchidism, Obesity, Femoral ...	ORPHA:96147
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating antibody level, Small for gestational age,...	ORPHA:125
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Decreased testicular size, Azotemia, Hepatic steatosis, Hypoplasia of the ov...	OMIM:619321
Bardet-Biedl Syndrome 17	Obesity, Hypogonadism, Polydipsia	OMIM:615994
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Insulin resistance, Breast aplasia, Hyperlipidemia	ORPHA:90153
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, Decreased...	OMIM:220110
Congenital Myopathy 9A	Obesity, Cryptorchidism	OMIM:618822
Kallmann Syndrome	Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotropin-releasing hormone ...	ORPHA:478
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Obesity, Decreased body weight, Dysphagia	ORPHA:589821
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Ulnar-Mammary Syndrome	Camptodactyly of finger, Breast aplasia, Hypoplastic nipples, Hernia of the abdominal wall, Delay...	ORPHA:3138
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia, Class III obesity	OMIM:616418
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Hepatocellular Carcinoma	Abnormality of the liver, Weight loss, Liver abscess, Type II diabetes mellitus, Hepatic necrosis...	ORPHA:88673
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level...	ORPHA:786
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Delayed puberty, H...	OMIM:232240
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Tyrosinemia, Type I	Hypermethioninemia, Cirrhosis, Hepatic failure, Hepatocellular carcinoma, Elevated hepatic transa...	OMIM:276700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Knee flexion contracture, Birth length greater than 97th percentile, Cirrhosis, Flexion contractu...	OMIM:300868
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Diabet...	OMIM:241080
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Decreased body weight, Agitation, Overweight, Dysphagia, Amelogenesis imperfec...	OMIM:619229
Man1B1-Cdg	Polyphagia, Truncal obesity	ORPHA:397941
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida	ORPHA:63260
Tangier Disease	Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly	ORPHA:31150
Momo Syndrome	Large for gestational age, Overgrowth, Abnormality of the thyroid gland, Tall stature, Obesity	ORPHA:2563
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Aicardi-Goutieres Syndrome 7	Hypothyroidism, Weight loss, Hepatitis, Increased circulating antibody level, Hepatic steatosis, ...	OMIM:615846
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Microtia, Pure red cell aplasia, Erythroid...	ORPHA:124
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Failure to thrive, Attention deficit hyperactivity diso...	ORPHA:261197
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Hepatomegaly	OMIM:618443
Pmm2-Cdg	Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti...	ORPHA:79318
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Obesity, Cryptorchidism	OMIM:194072
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Obesity, Dysphagia	ORPHA:411511
1P36 Deletion Syndrome	Camptodactyly of finger, Hypothyroidism, Abnormality of the liver, Hypogonadism, Annular pancreas...	ORPHA:1606
Trisomy 10P	Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e...	ORPHA:171929
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Low-set ears, Optic disc pallor, Sensorineural hearing impairment	ORPHA:423479
Adult-Onset Autosomal Dominant Leukodystrophy	Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito...	ORPHA:99027
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ...	OMIM:216550
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Abnormal eating behavior, Hyperactivity, Obesity, Dysphagia	ORPHA:98794
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa...	ORPHA:206436
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus	OMIM:619269
Aapoaiv Amyloidosis	Diabetes mellitus, Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Kleefstra Syndrome	Obesity, Hernia, Supernumerary nipple, Cryptorchidism	ORPHA:261494
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Hypogonadism, Jaundice, Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Obesity	OMIM:614231
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity	OMIM:619056
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac...	OMIM:609136
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Hydrocephalus, Short stature	OMIM:227646
Angelman Syndrome	Precocious puberty in females, Hyperactivity, Polyphagia, Dysphagia, Obesity, Delayed menarche	ORPHA:72
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Small for gestational age, Failure to thrive, Hyperlipidemia, ...	ORPHA:1830
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Small for gestational age, Inguinal hernia, Failure to thrive, ...	OMIM:220111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kin...	OMIM:615356
Smith-Lemli-Opitz Syndrome	Cirrhosis, Precocious puberty, Hyperactivity, Hepatic steatosis, Failure to thrive, Cryptorchidis...	OMIM:270400
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Joubert Syndrome 8	Prolonged neonatal jaundice, Obesity, Hepatomegaly	OMIM:612291
Ogden Syndrome	Microvesicular hepatic steatosis, Minimal subcutaneous fat, Decreased testicular size, Jaundice, ...	OMIM:300855
Laurence-Moon Syndrome	Obesity	OMIM:245800
Wagro Syndrome	Decreased testicular size, Obesity, Polyphagia, Agitation	OMIM:612469
Cerebrotendinous Xanthomatosis	Abnormality of somatosensory evoked potentials, Optic atrophy, Thoracic kyphosis, Abnormal audito...	ORPHA:909
Immunodeficiency 40	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:616433
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperactivity, Decreased body weight, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase...	OMIM:619475
Shox-Related Short Stature	Obesity	ORPHA:314795
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Precocious puberty, Type II diabetes mellitus, Truncal obesity	OMIM:210720
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
White-Sutton Syndrome	Hyperactivity, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, Obesity	ORPHA:468678
Lead Poisoning	Imbalanced hemoglobin synthesis, Abnormality of the autonomic nervous system, Abnormal T cell mor...	ORPHA:330015
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
7Q11.23 Microduplication Syndrome	Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Polyphagia, Cryptorchidism, Obesity	ORPHA:96121
Cohen Syndrome	Delayed puberty, Obesity, Failure to thrive in infancy, Cryptorchidism	ORPHA:193
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Truncal obesity	ORPHA:3224
Alg3-Cdg	Neural tube defect	ORPHA:79321
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Reduced subcutaneous adipose tissue, Elbow flexion contracture, Thyroid hypo...	OMIM:619503
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity, Attention deficit hyperactivity disorder	OMIM:619680
Lysinuric Protein Intolerance	Splenomegaly, Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating f...	OMIM:222700
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Inguinal hernia, Failu...	ORPHA:567
Cockayne Syndrome B	Sensorineural hearing impairment, Optic atrophy, Kyphosis, Abnormal auditory evoked potentials, D...	OMIM:133540
Cockayne Syndrome A	Sensorineural hearing impairment, Optic atrophy, Kyphosis, Abnormal auditory evoked potentials, D...	OMIM:216400
Kleefstra Syndrome 1	Obesity, Cryptorchidism	OMIM:610253
Thymoma	Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia	ORPHA:99867
Angelman Syndrome	Hyperactivity, Obesity	OMIM:105830
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Attention deficit hyperactivity disorder, Joint contracture of the 5th finger	OMIM:619934
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Sensorineural hearing impairment, Optic atrophy, Aganglionic megacolon, Abnormal hemoglobin	ORPHA:847
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hepatocellular necrosis, Unconjugated hyperbilirubinemia, Hepat...	OMIM:618278
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Obesity, Hip contracture	OMIM:618493
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle, Intrauterine growth retardation, Short stature	OMIM:227645
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Flexion contracture, Limb joint contracture, Micronodular cirrhosis, Hepatomegal...	OMIM:301072
Achondroplasia	Obesity, Hypoxemia	ORPHA:15
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an...	ORPHA:3261
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Attention d...	ORPHA:177907
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Pineal cyst, Failure to thr...	OMIM:615873
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Low-set ears, Kyphosis	ORPHA:401973
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Cyanosis, Absence of subcutaneous fat, Pubertal developmental failure in fem...	ORPHA:740
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Arima Syndrome	Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Hepatomegaly, Polydipsia	OMIM:243910
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia	ORPHA:391665
Kabuki Syndrome	Precocious puberty, Congenital diaphragmatic hernia, Failure to thrive, Cryptorchidism, Obesity	ORPHA:2322
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu...	OMIM:203700
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita...	ORPHA:1435
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle, Short stature	OMIM:600901
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle, Short stature	OMIM:227650
Adnp Syndrome	Inguinal hernia, Truncal obesity, Polyphagia, Attention deficit hyperactivity disorder, Cryptorch...	ORPHA:404448
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Cryptorchidism	OMIM:616078
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Delayed puber...	ORPHA:1772
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased circulating antibody level,...	ORPHA:449432
Xylt1-Cdg	Hepatomegaly, Truncal obesity	ORPHA:370930
Williams-Beuren Syndrome	Hypothyroidism, Flexion contracture, Early onset of sexual maturation, Inguinal hernia, Diabetes ...	OMIM:194050
Chops Syndrome	Obesity, Splenomegaly, Cryptorchidism	OMIM:616368
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Obesity, Supernumerary nipple, Cryptorchidism	OMIM:618653
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Autosomal Recessive Spastic Paraplegia Type 11	Obesity, Overweight, Dysphagia	ORPHA:2822
Primrose Syndrome	Knee flexion contracture, Hypothyroidism, Flexion contracture, Hip contracture, Bilateral cryptor...	OMIM:259050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Attention deficit hyperactivity disorder, Truncal obesity	ORPHA:2637
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity, Abnormality of the pineal gland	ORPHA:369950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Williams Syndrome	Hypothyroidism, Abnormal circulating lipid concentration, Precocious puberty, Type II diabetes me...	ORPHA:904
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Osteogenesis Imperfecta	Biconcave vertebral bodies, Progressive hearing impairment, Kyphosis, Cervical kyphosis, Vertebra...	ORPHA:666
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test	ORPHA:444077
Witteveen-Kolk Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Small for gestational age, ...	OMIM:613406
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Bilateral breast hypoplasia	ORPHA:319675
Ulnar-Mammary Syndrome	Anterior pituitary hypoplasia, Elbow flexion contracture, Hypoplastic nipples, Axillary apocrine ...	OMIM:181450
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity	OMIM:614947
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Dysphagia, Obesity, Attention deficit hyperactivity disorder, Truncal obesity	ORPHA:466950
Rubinstein-Taybi Syndrome 1	Enamel hypoplasia, Hyperactivity, Flexion contracture, Premature thelarche, Keloids, Small for ge...	OMIM:180849
Partial Deletion Of The Short Arm Of Chromosome 7	Bilateral cryptorchidism, Obesity, Dysphagia	ORPHA:261911
Myhre Syndrome	Vertebral fusion, Microtia, Enlarged vertebral pedicles, Short neck, Platyspondyly, Low-set ears,...	OMIM:139210
White-Kernohan Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Chronic Thromboembolic Pulmonary Hypertension	Hypocapnia, Obesity, Elevated circulating C-reactive protein concentration, Increased HDL cholest...	ORPHA:70591
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia	ORPHA:35909
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:466943
Bardet-Biedl Syndrome 12	Obesity, Hypogonadism	OMIM:615989
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
17Q24.2 Microdeletion Syndrome	Pineal cyst, Failure to thrive in infancy, Decreased response to growth hormone stimulation test,...	ORPHA:529962
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Obesity, Pseudohypoparathyroidism	OMIM:617157
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Hypothyroidism, Camptodactyly, Polyphagia, Cryptorchidism, Dysphagia, Co...	OMIM:607872
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Keloids, Failure to thrive, Impulsivity, Cryptorchidism, Obesity	ORPHA:353281
Carpenter Syndrome 2	Knee flexion contracture, Bilateral cryptorchidism, Camptodactyly, Supernumerary nipple, Hypoplas...	OMIM:614976
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Keloids, Corneal scarring, Hydrocele testis, Failure to thrive, Impulsivity, Crypt...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Keloids, Corneal scarring, Hydrocele testis, Failure to thrive, Impulsivity, Crypt...	ORPHA:353277
Monosomy 22Q13.3	Hyperactivity, Obesity, Umbilical hernia	ORPHA:48652
Tako-Tsubo Cardiomyopathy	Abnormal B-type natriuretic peptide concentration, Obesity, Mildly elevated creatine kinase	ORPHA:66529
1P21.3 Microdeletion Syndrome	Obesity, Abnormal eating behavior	ORPHA:293948
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Delayed puberty, Failure to thrive, Truncal obesity, Attention d...	ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Hypogonadism, Decreased testicular size, Cryptorchidism, Obesity	OMIM:309580
Retinitis Pigmentosa 74	Obesity	OMIM:616562
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Failure to thrive, Camptodactyly, Truncal obesity	OMIM:612474
Schinzel-Giedion Syndrome	Umbilical hernia, Neural tube defect	ORPHA:798
Pallister-Killian Syndrome	Enamel hypoplasia, Flexion contracture, Supernumerary nipple, Inguinal hernia, Congenital diaphra...	OMIM:601803
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:220386

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Brd2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Brd2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Brd2^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Brd2^{em1(IMPC)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Brd2^em1Wtsi	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Brd2^em1Wtsi	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Brd2^{em1(IMPC)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Brd2^em2Wtsi	PMC5159622

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MGI Allele	Allele Type	Produced
Brd2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Brd2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Brd2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Brd2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Brd2^{em1(IMPC)Wtsi}	Deletion	Mice

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Gene: Brd2 MGI:99495

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

DSS Histology

Anti-nuclear antibody assay

Spleen Immunophenotyping

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Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Brd2 mutations

Histopathology

IMPC related publications

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